Variant report

Variant	nsv1019211
Chromosome Location	chr7:52706930-52785302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:52731842..52733359-chr7:52737655..52740538,2	K562	blood:
2	chr7:52731842..52733359-chr7:52737655..52740538,2	K562	blood:
3	chr7:52737899..52740612-chr7:52858585..52861184,2	K562	blood:

Extended variants
information (count: 2196 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:2196 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534950549	chr7:52706935-52706936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371881483	chr7:52706938-52706939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77323633	chr7:52706957-52706958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138051419	chr7:52706960-52706961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188959579	chr7:52706984-52706985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576553140	chr7:52707020-52707021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545471033	chr7:52707047-52707048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192987903	chr7:52707055-52707056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6976281	chr7:52707082-52707083	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541759573	chr7:52707092-52707093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10279939	chr7:52707122-52707123	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6980461	chr7:52707123-52707124	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549921586	chr7:52707146-52707147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377010219	chr7:52707166-52707167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74775690	chr7:52707279-52707280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532678664	chr7:52707301-52707302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552792988	chr7:52707351-52707352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62444465	chr7:52707384-52707385	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368865208	chr7:52707439-52707440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187374647	chr7:52707441-52707442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191817766	chr7:52707495-52707496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568273179	chr7:52707531-52707532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374085057	chr7:52707573-52707574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556568747	chr7:52707580-52707581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71557957	chr7:52707586-52707587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59607943	chr7:52707587-52707588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35386685	chr7:52707588-52707589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397742493	chr7:52707589-52707590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201152935	chr7:52707590-52707591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184031861	chr7:52707598-52707599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539187936	chr7:52707599-52707600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542576064	chr7:52707601-52707602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10215607	chr7:52707609-52707610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs572560049	chr7:52707613-52707614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143707423	chr7:52707667-52707668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555113396	chr7:52707695-52707696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189265351	chr7:52707723-52707724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35046813	chr7:52707827-52707828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80178158	chr7:52707859-52707860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563704929	chr7:52707881-52707882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371061476	chr7:52707913-52707914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531415349	chr7:52707923-52707924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10215679	chr7:52707928-52707929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565677023	chr7:52707936-52707937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76799561	chr7:52707954-52707955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180812875	chr7:52707971-52707972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185686837	chr7:52708018-52708019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73120104	chr7:52708019-52708020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs147224201	chr7:52708025-52708026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138994567	chr7:52708033-52708034	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52703400-52707800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:52706200-52707600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:52706400-52708400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:52706600-52708000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:52706600-52708200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:52706600-52708200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:52706600-52708200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:52706600-52708400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:52706600-52708400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:52706800-52707000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:52706800-52707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:52706800-52707000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:52706800-52707000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:52706800-52707000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:52706800-52707200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:52706800-52708200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:52706800-52708400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:52706800-52708400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:52706800-52708400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:52706800-52708600	Enhancers	NH-A	brain
21	chr7:52707000-52707400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:52707000-52707800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:52707000-52707800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:52707000-52707800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:52707400-52708200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:52707800-52708000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:52707800-52708000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:52707800-52708000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:52707800-52708400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:52708200-52708600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr7:52716200-52717200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:52716400-52717200	Enhancers	NH-A	brain
33	chr7:52720800-52723400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:52723400-52724200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:52723600-52724200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr7:52724200-52724400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:52725200-52725600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:52725400-52726000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:52725600-52726200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:52725600-52726600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:52726000-52727000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:52726200-52726800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:52726600-52726800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:52726800-52727000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:52727000-52727200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:52731800-52732600	Enhancers	HUVEC	blood vessel
47	chr7:52735600-52736400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:52736400-52736600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:52736600-52737000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:52737000-52737200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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